DisGeNET - a database of gene-disease associations

Niemann-Pick Disease, Type A, C0268242

Variant: rs120074127 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs120074127

SMPD1

0.700

CausalMutation

CLINVAR

Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.

22796693

2012

dbSNP:

rs120074127

SMPD1

0.700

CausalMutation

CLINVAR

Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

17011332

2006

dbSNP:

rs120074127

SMPD1

0.700

CausalMutation

CLINVAR

Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol.

12607113

2003

dbSNP:

rs120074127

SMPD1

0.700

CausalMutation

CLINVAR

Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.

8680412

1995